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Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.
Features include always present findings: Anonychia. 2 total HPO annotations.
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Organ System | Phenotype Count | Example Features |
|---|---|---|
Growth and development | 1 | Growth abnormality |
Age of onset: at birth.
RSPO4 function has not been fully characterized.
Nonsyndromic congenital nail disorder 4 is associated with mutations in the RSPO4 gene on chromosome 20.
Genetic testing for RSPO4 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for nonsyndromic congenital nail disorder 4.
4 publications have been identified in PubMed for nonsyndromic congenital nail disorder 4. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).
Zhang Q (2025). [PMID: 40620857](https://pubmed.ncbi.nlm.nih.gov/40620857/). *Frontiers in pediatrics*. [Case Report / Case Series]
Wang Z (2025). [PMID: 39969530](https://pubmed.ncbi.nlm.nih.gov/39969530/). *The British journal of dermatology*. [Basic Science / Preclinical]
Charng WL (2024). [PMID: 38663984](https://pubmed.ncbi.nlm.nih.gov/38663984/). *Journal of medical genetics*. [Basic Science / Preclinical]
Cedirian S (2024). [PMID: 39386306](https://pubmed.ncbi.nlm.nih.gov/39386306/). *Skin appendage disorders*. [Review / Meta-Analysis]